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Results: 1 to 20 of 50

1.
Lorena Travaglini, Francesco Brancati, Tania Attie-Bitach, Sophie Audollent, Enrico Bertini, Josseline Kaplan, Isabelle Perrault, Miriam Iannicelli, Brunella Mancuso, Luciana Rigoli, Jean-Michel Rozet, Dominika Swistun, Jerlyn Tolentino, The International JSRD Study Group, Bruno Dallapiccola, Joseph G. Gleeson, Enza Maria Valente
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2009 October; 0(10): 2173–2180. doi: 10.1002/ajmg.a.33025
PMCID:
PMC4340070
2.
A.M. Lehman, P. Eydoux, D. Doherty, I.A. Glass, D. Chitayat, B.Y.H. Chung, S. Langlois, S.L. Yong, R.B. Lowry, F. Hildebrandt, P. Trnka
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2010 June; 0(6): 1411–1419. doi: 10.1002/ajmg.a.33416
PMCID:
PMC4048012
3.
Avery H. Weiss, Dan Doherty, Melissa Parisi, Dennis Shaw, Ian Glass, James O. Phillips
Invest Ophthalmol Vis Sci.
Published in final edited form as: Invest Ophthalmol Vis Sci. 2009 October; 50(10): 4669–4677. Published online 2009 May 14. doi: 10.1167/iovs.08-3299
PMCID:
PMC3919872
4.
Enza Maria Valente, Francesco Brancati, Eugen Boltshauser, Bruno Dallapiccola
Eur J Hum Genet. 2013 October; 21(10) Published online 2013 February 13. doi: 10.1038/ejhg.2013.10
PMCID:
PMC3778348
5.
Audrey Putoux, Sophie Thomas, Karlien L M Coene, Erica E Davis, Yasemin Alanay, Gönül Ogur, Elif Uz, Daniela Buzas, Céline Gomes, Sophie Patrier, Christopher L Bennett, Nadia Elkhartoufi, Marie-Hélène Saint Frison, Luc Rigonnot, Nicole Joyé, Solenn Pruvost, Gulen Eda Utine, Koray Boduroglu, Patrick Nitschke, Laura Fertitta, Christel Thauvin-Robinet, Arnold Munnich, Valérie Cormier-Daire, Raoul Hennekam, Estelle Colin, Nurten Ayse Akarsu, Christine Bole-Feysot, Nicolas Cagnard, Alain Schmitt, Nicolas Goudin, Stanislas Lyonnet, Férechté Encha-Razavi, Jean-Pierre Siffroi, Mark Winey, Nicholas Katsanis, Marie Gonzales, Michel Vekemans, Philip L Beales, Tania Attié-Bitach
Nat Genet.
Published in final edited form as: Nat Genet. 2011 June; 43(6): 601–606. Published online 2011 May 8. doi: 10.1038/ng.826
PMCID:
PMC3674836
6.
Jeong Ho Lee, Jennifer L. Silhavy, Ji Eun Lee, Lihadh Al-Gazali, Sophie Thomas, Erica E. Davis, Stephanie L. Bielas, Kiley J. Hill, Miriam Iannicelli, Francesco Brancati, Stacey B. Gabriel, Carsten Russ, Clare V. Logan, Saghira Malik Sharif, Christopher P. Bennett, Masumi Abe, Friedhelm Hildebrandt, Bill H. Diplas, Tania Attié-Bitach, Nicholas Katsanis, Anna Rajab, Roshan Koul, Laszlo Sztriha, Elizabeth R. Waters, Susan Ferro-Novick, C. Geoffrey Woods, Colin A. Johnson, Enza Maria Valente, Maha S. Zaki, Joseph G. Gleeson
Science.
Published in final edited form as: Science. 2012 February 24; 335(6071): 966–969. Published online 2012 January 26. doi: 10.1126/science.1213506
PMCID:
PMC3671610
7.
D Doherty, M A Parisi, L S Finn, M Gunay-Aygun, M Al-Mateen, D Bates, C Clericuzio, H Demir, M Dorschner, A J van Essen, W A Gahl, M Gentile, N T Gorden, A Hikida, D Knutzen, H Özyurek, I Phelps, P Rosenthal, A Verloes, H Weigand, P F Chance, W B Dobyns, I A Glass
J Med Genet.
Published in final edited form as: J Med Genet. 2010 January; 47(1): 8–21. Published online 2009 July 1. doi: 10.1136/jmg.2009.067249
PMCID:
PMC3501959
8.
Sophie Thomas, Marine Legendre, Sophie Saunier, Bettina Bessières, Caroline Alby, Maryse Bonnière, Annick Toutain, Laurence Loeuillet, Katarzyna Szymanska, Frédérique Jossic, Dominique Gaillard, Mohamed Tahar Yacoubi, Soumaya Mougou-Zerelli, Albert David, Marie-Anne Barthez, Yves Ville, Christine Bole-Feysot, Patrick Nitschke, Stanislas Lyonnet, Arnold Munnich, Colin A. Johnson, Férechté Encha-Razavi, Valérie Cormier-Daire, Christel Thauvin-Robinet, Michel Vekemans, Tania Attié-Bitach
Am J Hum Genet. 2012 August 10; 91(2): 372–378. doi: 10.1016/j.ajhg.2012.06.017
PMCID:
PMC3415538
9.
Liyun Sang, Julie J. Miller, Kevin C. Corbit, Rachel H. Giles, Matthew J. Brauer, Edgar A. Otto, Lisa M. Baye, Xiaohui Wen, Suzie J. Scales, Mandy Kwong, Erik G. Huntzicker, Mindan K. Sfakianos, Wendy Sandoval, J. Fernando Bazan, Priya Kulkarni, Francesc R. Garcia-Gonzalo, Allen D. Seol, John F. O'Toole, Susanne Held, Heiko M. Reutter, William S. Lane, Muhammad Arshad Rafiq, Abdul Noor, Muhammad Ansar, Akella Radha Rama Devi, Val C. Sheffield, Diane C. Slusarski, John B. Vincent, Daniel A. Doherty, Friedhelm Hildebrandt, Jeremy F. Reiter, Peter K. Jackson
Cell.
Published in final edited form as: Cell. 2011 May 13; 145(4): 513–528. doi: 10.1016/j.cell.2011.04.019
PMCID:
PMC3383065
10.
Michael Field, Ingrid E Scheffer, Deepak Gill, Meredith Wilson, Louise Christie, Marie Shaw, Alison Gardner, Georgie Glubb, Lynne Hobson, Mark Corbett, Kathryn Friend, Saffron Willis-Owen, Jozef Gecz
Eur J Hum Genet. 2012 July; 20(7): 806–809. Published online 2012 February 22. doi: 10.1038/ejhg.2012.9
PMCID:
PMC3376274
11.
Myriam Srour, Jeremy Schwartzentruber, Fadi F. Hamdan, Luis H. Ospina, Lysanne Patry, Damian Labuda, Christine Massicotte, Sylvia Dobrzeniecka, José-Mario Capo-Chichi, Simon Papillon-Cavanagh, Mark E. Samuels, Kym M. Boycott, Michael I. Shevell, Rachel Laframboise, Valérie Désilets, FORGE Canada Consortium, Bruno Maranda, Guy A. Rouleau, Jacek Majewski, Jacques L. Michaud
Am J Hum Genet. 2012 April 6; 90(4): 693–700. doi: 10.1016/j.ajhg.2012.02.011
PMCID:
PMC3322222
12.
Ji Eun Lee, Jennifer L. Silhavy, Maha S. Zaki, Jana Schroth, Stephanie L. Bielas, Sarah E. Marsh, Jesus Olvera, Francesco Brancati, Miriam Iannicelli, Koji Ikegami, Andrew M. Schlossman, Barry Merriman, Tania Attié-Bitach, Clare V. Logan, Ian A. Glass, Andrew Cluckey, Carrie M. Louie, Jeong Ho Lee, Hilary R. Raynes, Isabelle Rapin, Ignacio P. Castroviejo, Mitsutoshi Setou, Clara Barbot, Eugen Boltshauser, Stanley F. Nelson, Friedhelm Hildebrandt, Colin A. Johnson, Daniel A. Doherty, Enza Maria Valente, Joseph G. Gleeson
Nat Genet.
Published in final edited form as: Nat Genet. 2012 January 15; 44(2): 193–199. Published online 2012 January 15. doi: 10.1038/ng.1078
PMCID:
PMC3267856
13.
Lijia Huang, Katarzyna Szymanska, Victor L. Jensen, Andreas R. Janecke, A. Micheil Innes, Erica E. Davis, Patrick Frosk, Chunmei Li, Jason R. Willer, Bernard N. Chodirker, Cheryl R. Greenberg, D. Ross McLeod, Francois P. Bernier, Albert E. Chudley, Thomas Müller, Mohammad Shboul, Clare V. Logan, Catrina M. Loucks, Chandree L. Beaulieu, Rachel V. Bowie, Sandra M. Bell, Jonathan Adkins, Freddi I. Zuniga, Kevin D. Ross, Jian Wang, Matthew R. Ban, Christian Becker, Peter Nürnberg, Stuart Douglas, Cheryl M. Craft, Marie-Andree Akimenko, Robert A. Hegele, Carole Ober, Gerd Utermann, Hanno J. Bolz, Dennis E. Bulman, Nicholas Katsanis, Oliver E. Blacque, Dan Doherty, Jillian S. Parboosingh, Michel R. Leroux, Colin A. Johnson, Kym M. Boycott
Am J Hum Genet. 2011 December 9; 89(6): 713–730. doi: 10.1016/j.ajhg.2011.11.005
PMCID:
PMC3234373
14.
Claudia Dafinger, Max Christoph Liebau, Solaf Mohamed Elsayed, Yorck Hellenbroich, Eugen Boltshauser, Georg Christoph Korenke, Francesca Fabretti, Andreas Robert Janecke, Inga Ebermann, Gudrun Nürnberg, Peter Nürnberg, Hanswalter Zentgraf, Friederike Koerber, Klaus Addicks, Ezzat Elsobky, Thomas Benzing, Bernhard Schermer, Hanno Jörn Bolz
J Clin Invest. 2011 July 1; 121(7): 2662–2667. Published online 2011 June 1. doi: 10.1172/JCI43639
PMCID:
PMC3223820
15.
Francesc R. Garcia-Gonzalo, Kevin C. Corbit, María Salomé Sirerol-Piquer, Gokul Ramaswami, Edgar A. Otto, Thomas R. Noriega, Allen D. Seol, Jon F. Robinson, Christopher L. Bennett, Dragana J. Josifova, José Manuel García-Verdugo, Nicholas Katsanis, Friedhelm Hildebrandt, Jeremy F. Reiter
Nat Genet.
Published in final edited form as: Nat Genet. 2011 July 3; 43(8): 776–784. Published online 2011 July 3. doi: 10.1038/ng.891
PMCID:
PMC3145011
16.
Erica E. Davis, Qi Zhang, Qin Liu, Bill H. Diplas, Lisa M. Davey, Jane Hartley, Corinne Stoetzel, Katarzyna Szymanska, Gokul Ramaswami, Clare V. Logan, Donna M. Muzny, Alice C. Young, David A. Wheeler, Pedro Cruz, Margaret Morgan, Lora R. Lewis, Praveen Cherukuri, Baishali Maskeri, Nancy F. Hansen, James C. Mullikin, Robert W. Blakesley, Gerard G. Bouffard, NISC Comparative Sequencing Program, Gabor Gyapay, Susanne Reiger, Burkhard Tönshoff, Ilse Kern, Neveen A. Soliman, Thomas J. Neuhaus, Kathryn J. Swoboda, Hulya Kayserili, Tomas E. Gallagher, Richard A. Lewis, Carsten Bergmann, Edgar A. Otto, Sophie Saunier, Peter J. Scambler, Philip L. Beales, Joseph G. Gleeson, Eamonn R. Maher, Tania Attié-Bitach, Hélène Dollfus, Colin A. Johnson, Eric D. Green, Richard A. Gibbs, Friedhelm Hildebrandt, Eric A. Pierce, Nicholas Katsanis
Nat Genet.
Published in final edited form as: Nat Genet. 2011 March; 43(3): 189–196. Published online 2011 January 23. doi: 10.1038/ng.756
PMCID:
PMC3071301
17.
Toby W. Hurd, Friedhelm Hildebrandt
Nephron Exp Nephrol. 2010 November; 118(1): e9–e14. Published online 2010 November 11. doi: 10.1159/000320888
PMCID:
PMC2992643
18.
Meral Gunay-Aygun, Melissa A. Parisi, Dan Doherty, Maya Tuchman, Ekaterini Tsilou, David E. Kleiner, Marjan Huizing, Baris Turkbey, Peter Choyke, Lisa Guay-Woodford, Theo Heller, Katarzyna Szymanska, Colin A. Johnson, Ian Glass, William A. Gahl
J Pediatr.
Published in final edited form as: J Pediatr. 2009 September; 155(3): 386–92.e1. Published online 2009 June 21. doi: 10.1016/j.jpeds.2009.03.045
PMCID:
PMC2925444
19.
Jennifer E. Westfall, Carlton Hoyt, Qin Liu, Yi-Chun Hsiao, Eric A. Pierce, Patrick S. Page-McCaw, Russell J. Ferland
J Neurosci.
Published in final edited form as: J Neurosci. 2010 June 30; 30(26): 8759–8768. doi: 10.1523/JNEUROSCI.5229-09.2010
PMCID:
PMC2923804
20.
Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, Céline Gomes, Gian Luigi Ardissino, Enrico Bertini, Eugen Boltshauser, Pierangela Castorina, Stefano D'Arrigo, Rita Fischetto, Brigitte Leroy, Philippe Loget, Maryse Bonnière, Lena Starck, Julia Tantau, Barbara Gentilin, Silvia Majore, Dominika Swistun, Elizabeth Flori, Faustina Lalatta, Chiara Pantaleoni, Johannes.Penzien, Paola Grammatico, the International JSRD Study Group, Bruno Dallapiccola, Joseph G. Gleeson, Tania Attie-Bitach, Enza Maria Valente
Hum Mutat.
Published in final edited form as: Hum Mutat. 2010 May; 31(5): E1319–E1331. doi: 10.1002/humu.21239
PMCID:
PMC2918781

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